Comprehensive analysis of 112 melanocytic skin lesions demonstrates microsatellite instability in melanomas and dysplastic nevi, but not in benign nevi

Introduction: Alterations in the length of DNA repetitive sequences (microsatellite instability (MSI)) represent distinct tumorigenic pathways associated with several familial and sporadic tumors. Material and methods: To investigate the prevalence and frequency of MSI in melanocytic lesions, the po...

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Veröffentlicht in:Journal of cutaneous pathology 2001-08, Vol.28 (7), p.343-350
Hauptverfasser: Hussein, Mahmoud R., Sun, Min, Tuthill, Ralph J., Roggero, Eduardo, Monti, Jorge A., Sudilovsky, Eulalia C., Wood, Gary S., Sudilovsky, Oscar
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container_end_page 350
container_issue 7
container_start_page 343
container_title Journal of cutaneous pathology
container_volume 28
creator Hussein, Mahmoud R.
Sun, Min
Tuthill, Ralph J.
Roggero, Eduardo
Monti, Jorge A.
Sudilovsky, Eulalia C.
Wood, Gary S.
Sudilovsky, Oscar
description Introduction: Alterations in the length of DNA repetitive sequences (microsatellite instability (MSI)) represent distinct tumorigenic pathways associated with several familial and sporadic tumors. Material and methods: To investigate the prevalence and frequency of MSI in melanocytic lesions, the polymerase chain reaction (PCR)‐based microsatellite assay was used to examine formalin‐fixed, paraffin‐embedded tissues of 30 benign melanocytic nevi, 60 melanocytic dysplastic nevi (MDN), and 22 primary vertical growth phase cutaneous malignant melanomas (CMM). Twenty‐four microsatellite markers at the 1p, 2p, 3p, 4q and 9p chromosomal regions were used. Results: MSI was found at 1p and 9p in MDN and CMM but not in benign melanocytic nevi. The overall prevalence of MSI was17/60 (28%) in MDN and 7/22 (31%) in CMM. The frequency of MSI ranged from 2/24 (9%) to 4/24 (17%) and was most commonly found at D9S162. There was a statistically significant correlation between degree of atypia and frequency of MSI (p
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Material and methods: To investigate the prevalence and frequency of MSI in melanocytic lesions, the polymerase chain reaction (PCR)‐based microsatellite assay was used to examine formalin‐fixed, paraffin‐embedded tissues of 30 benign melanocytic nevi, 60 melanocytic dysplastic nevi (MDN), and 22 primary vertical growth phase cutaneous malignant melanomas (CMM). Twenty‐four microsatellite markers at the 1p, 2p, 3p, 4q and 9p chromosomal regions were used. Results: MSI was found at 1p and 9p in MDN and CMM but not in benign melanocytic nevi. The overall prevalence of MSI was17/60 (28%) in MDN and 7/22 (31%) in CMM. The frequency of MSI ranged from 2/24 (9%) to 4/24 (17%) and was most commonly found at D9S162. There was a statistically significant correlation between degree of atypia and frequency of MSI (p&lt;0.001) in MDN. There were two MSI banding patterns: band shifts and additional bands. Conclusions: The data presented revealed the presence of low‐frequency MSI (MSI‐L) at the 1p and 9p regions in both MDN and CMM. Whether the MSI‐L pattern reflects a defect in mismatch repair genes is still to be determined.</description><identifier>ISSN: 0303-6987</identifier><identifier>EISSN: 1600-0560</identifier><identifier>DOI: 10.1034/j.1600-0560.2001.280702.x</identifier><identifier>PMID: 11437939</identifier><identifier>CODEN: JCUPBN</identifier><language>eng</language><publisher>Copenhagen: Munksgaard International Publishers</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Dermatology ; Dysplastic Nevus Syndrome - genetics ; Gene Frequency ; Humans ; Medical sciences ; Melanocytes - pathology ; Melanoma - genetics ; Microsatellite Repeats ; Nevus - genetics ; Skin Neoplasms - genetics ; Skin Neoplasms - pathology ; Tumors of the skin and soft tissue. 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Material and methods: To investigate the prevalence and frequency of MSI in melanocytic lesions, the polymerase chain reaction (PCR)‐based microsatellite assay was used to examine formalin‐fixed, paraffin‐embedded tissues of 30 benign melanocytic nevi, 60 melanocytic dysplastic nevi (MDN), and 22 primary vertical growth phase cutaneous malignant melanomas (CMM). Twenty‐four microsatellite markers at the 1p, 2p, 3p, 4q and 9p chromosomal regions were used. Results: MSI was found at 1p and 9p in MDN and CMM but not in benign melanocytic nevi. The overall prevalence of MSI was17/60 (28%) in MDN and 7/22 (31%) in CMM. The frequency of MSI ranged from 2/24 (9%) to 4/24 (17%) and was most commonly found at D9S162. There was a statistically significant correlation between degree of atypia and frequency of MSI (p&lt;0.001) in MDN. There were two MSI banding patterns: band shifts and additional bands. Conclusions: The data presented revealed the presence of low‐frequency MSI (MSI‐L) at the 1p and 9p regions in both MDN and CMM. Whether the MSI‐L pattern reflects a defect in mismatch repair genes is still to be determined.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Dermatology</subject><subject>Dysplastic Nevus Syndrome - genetics</subject><subject>Gene Frequency</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Melanocytes - pathology</subject><subject>Melanoma - genetics</subject><subject>Microsatellite Repeats</subject><subject>Nevus - genetics</subject><subject>Skin Neoplasms - genetics</subject><subject>Skin Neoplasms - pathology</subject><subject>Tumors of the skin and soft tissue. 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Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hussein, Mahmoud R.</creatorcontrib><creatorcontrib>Sun, Min</creatorcontrib><creatorcontrib>Tuthill, Ralph J.</creatorcontrib><creatorcontrib>Roggero, Eduardo</creatorcontrib><creatorcontrib>Monti, Jorge A.</creatorcontrib><creatorcontrib>Sudilovsky, Eulalia C.</creatorcontrib><creatorcontrib>Wood, Gary S.</creatorcontrib><creatorcontrib>Sudilovsky, Oscar</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of cutaneous pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hussein, Mahmoud R.</au><au>Sun, Min</au><au>Tuthill, Ralph J.</au><au>Roggero, Eduardo</au><au>Monti, Jorge A.</au><au>Sudilovsky, Eulalia C.</au><au>Wood, Gary S.</au><au>Sudilovsky, Oscar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comprehensive analysis of 112 melanocytic skin lesions demonstrates microsatellite instability in melanomas and dysplastic nevi, but not in benign nevi</atitle><jtitle>Journal of cutaneous pathology</jtitle><addtitle>J Cutan Pathol</addtitle><date>2001-08</date><risdate>2001</risdate><volume>28</volume><issue>7</issue><spage>343</spage><epage>350</epage><pages>343-350</pages><issn>0303-6987</issn><eissn>1600-0560</eissn><coden>JCUPBN</coden><abstract>Introduction: Alterations in the length of DNA repetitive sequences (microsatellite instability (MSI)) represent distinct tumorigenic pathways associated with several familial and sporadic tumors. 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Conclusions: The data presented revealed the presence of low‐frequency MSI (MSI‐L) at the 1p and 9p regions in both MDN and CMM. Whether the MSI‐L pattern reflects a defect in mismatch repair genes is still to be determined.</abstract><cop>Copenhagen</cop><pub>Munksgaard International Publishers</pub><pmid>11437939</pmid><doi>10.1034/j.1600-0560.2001.280702.x</doi><tpages>8</tpages></addata></record>
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subjects Biological and medical sciences
Chromosome Mapping
Dermatology
Dysplastic Nevus Syndrome - genetics
Gene Frequency
Humans
Medical sciences
Melanocytes - pathology
Melanoma - genetics
Microsatellite Repeats
Nevus - genetics
Skin Neoplasms - genetics
Skin Neoplasms - pathology
Tumors of the skin and soft tissue. Premalignant lesions
title Comprehensive analysis of 112 melanocytic skin lesions demonstrates microsatellite instability in melanomas and dysplastic nevi, but not in benign nevi
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